KEGG   Homo sapiens (human): 80270
Entry
80270             CDS       T01001                                 

Gene name
HSD3B7, CBAS1, PFIC4, SDR11E3
Definition
(RefSeq) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
  KO
K12408  cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase [EC:1.1.1.181]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00120  Primary bile acid biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00104  Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate
Network
nt06022  Bile acid biosynthesis
  Element
N00805  Bile acid biosynthesis
N00806  ACOX2 deficiency in bile acid biosynthesis
N00807  AMACR deficiency in bile acid biosynthesis
N00808  CYP27A1 deficiency in bile acid biosynthesis
N00809  AKR1D1 deficiency in bile acid biosynthesis
N00810  HSD3B7 deficiency in bile acid biosynthesis
Disease
H00628  Congenital bile acid synthesis defect
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00120 Primary bile acid biosynthesis
    80270 (HSD3B7)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.1  Acting on the CH-OH group of donors
   1.1.1  With NAD+ or NADP+ as acceptor
    1.1.1.181  cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase
     80270 (HSD3B7)
SSDB
Motif
Pfam: 3Beta_HSD Epimerase GDP_Man_Dehyd NAD_binding_4 NAD_binding_10 KR Polysacc_synt_2 RmlD_sub_bind adh_short NmrA Sacchrp_dh_NADP
Other DBs
NCBI-GeneID: 80270
NCBI-ProteinID: NP_079469
OMIM: 607764
HGNC: 18324
Ensembl: ENSG00000099377
Vega: OTTHUMG00000132417
Pharos: Q9H2F3(Tbio)
UniProt: Q9H2F3
LinkDB
Position
16p11.2
AA seq 369 aa
MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQHLGPWLEELKTGPVRV
TAIQGDVTQAHEVAAAVAGAHVVIHTAGLVDVFGRASPKTIHEVNVQGTRNVIEACVQTG
TRFLVYTSSMEVVGPNTKGHPFYRGNEDTPYEAVHRHPYPCSKALAEWLVLEANGRKVRG
GLPLVTCALRPTGIYGEGHQIMRDFYRQGLRLGGWLFRAIPASVEHGRVYVGNVAWMHVL
AARELEQRATLMGGQVYFCYDGSPYRSYEDFNMEFLGPCGLRLVGARPLLPYWLLVFLAA
LNALLQWLLRPLVLYAPLLNPYTLAVANTTFTVSTDKAQRHFGYEPLFSWEDSRTRTILW
VQAATGSAQ
NT seq 1110 nt   +upstreamnt  +downstreamnt
atggccgactctgcacaggcccagaagctggtgtacctggtcacagggggctgtggcttc
ctgggagagcacgtggtgcgaatgctgctgcagcgggagccccggctcggggagctgcgg
gtctttgaccaacacctgggtccctggctggaggagctgaagacagggcctgtgagggtg
actgccatccagggggacgtgacccaggcccatgaggtggcagcagctgtggccggagcc
catgtggtcatccacacggctgggctggtagacgtgtttggcagggccagtcccaagacc
atccatgaggtcaacgtgcagggtacccggaacgtgatcgaggcttgtgtgcagaccgga
acacggttcctggtctacaccagcagcatggaagttgtggggcctaacaccaaaggtcac
cccttctacaggggcaacgaagacaccccatacgaagcagtgcacaggcacccctatcct
tgcagcaaggccctggccgagtggctggtcctggaggccaacgggaggaaggtccgtggg
gggctgcccctggtgacgtgtgcccttcgtcccacgggcatctacggtgaaggccaccag
atcatgagggacttctaccgccagggcctgcgcctgggaggttggctcttccgggccatc
ccggcctctgtggagcatggccgggtctatgtgggcaatgttgcctggatgcacgtgctg
gcagcccgggagctggagcagcgggcaaccctgatgggcggccaggtatacttctgctac
gatggatcaccctacaggagctacgaggatttcaacatggagttcctgggcccctgcgga
ctgcggctggtgggcgcccgcccattgctgccctactggctgctggtgttcctggctgcc
ctcaatgccctgctgcagtggctgctgcggccactggtgctctacgcacccctgctgaac
ccctacacgctggccgtggccaacaccaccttcaccgtcagcaccgacaaggctcagcgc
catttcggctatgagcccctgttctcgtgggaggatagccggacccgtaccattctctgg
gtacaggccgctacgggttcagcccagtga

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